Jeune Syndrome

摘要

Jeune syndrome or asphyxiating thoracic dystrophy is a rare autosomal recessive skeletal dysplasia characterised by a small chest and short ribs which restrict the growth and expansion of the lungs often causing life threatening complications. The inheritance is autosomal recessive. A locus has been identified on chromosome 15q13 , while recently, mutations were found in the IFT80 gene, encoding an intraflagellar protein. Other symptoms may include shortened bones in the arms and legs, unusually shaped pelvic bones, and extra fingers and/or toes (polydactyly). It is estimated to occur in 1 per 100,000 – 130,000 live births. Children that survive the breathing and lung challenges of infancy, can later develop life-threatening kidney problems. Heart defects and a narrowing of the airway (subglottic stenosis) are also possible. Other, very less common features of Jeune syndrome include liver disease, pancreatic cysts, dental abnormalities, and an eye disease called retinal dystrophy that can lead to the loss of vision. We report a preterm neonate with Jeune syndrome.